Preferred Label : MASA syndrome;
ICD-11 definition : MASA syndrome (Mental retardation, Aphasia, Shuffling gait, Adductus thumbs) is an
X-linked intellectual deficit syndrome (XLMR) characterized by spasticity of the lower
limbs with hyperreflexia, aphasia and adductus thumbs. Brain imaging provides evidence
of dilated cerebral ventricles, stenosis of the aqueduct of Sylvius, hypoplasia or
agenesis of the corticospinal tract and agenesis of the corpus callosum. This syndrome
is considered to belong to the L1 syndrome spectrum.;
Origin ID : 1973644723;
Currated CISMeF NLP mapping
MASA syndrome (Mental retardation, Aphasia, Shuffling gait, Adductus thumbs) is an
X-linked intellectual deficit syndrome (XLMR) characterized by spasticity of the lower
limbs with hyperreflexia, aphasia and adductus thumbs. Brain imaging provides evidence
of dilated cerebral ventricles, stenosis of the aqueduct of Sylvius, hypoplasia or
agenesis of the corticospinal tract and agenesis of the corpus callosum. This syndrome
is considered to belong to the L1 syndrome spectrum.
